The Ontology of Craniofacial Development and Malformation

颅面发育与畸形的本体论

• 批准号: 9042847
• 负责人: JAMES F BRINKLEY
• 金额: $ 39.58万
• 依托单位: UNIVERSITY OF WASHINGTON
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-05-12 至 2019-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9042847
• 关键词: 3-Dimensional; Adipose tissue; Adult; Anatomy; Animal Model; Architecture; Area; Biological; Biological Neural Networks; Cephalic; Child; Clinical; Color; Companions; Complement 2; Congenital Abnormality; Craniofacial Abnormalities; Craniosynostosis; Data; Data Set; Databases; Development; Developmental Anatomy; Disease; Dysmorphology; Dysplasia; Ear; Exhibits; Eye; Face; FaceBase; Gene Expression; Genes; Genetic; Goals; Grant; Head; Health; Human; Image; Imagery; Informatics; Integumentary system; Internet; Knowledge; Link; Literature; Maps; Methods; Modeling; Mucous Membrane; Mus; Musculoskeletal System; Mutant Strains Mice; Nature; Online Systems; Ontology; Oral cavity; Organism; Patients; Phenotype; Positioning Attribute; Research; Research Infrastructure; Research Institute; Research Personnel; Site; Sorting - Cell Movement; Source; Structure; System; Texture; Time; Tongue; Universities; Vascular blood supply; Washington; Work; X-Ray Computed Tomography; Zebrafish; base; cleft lip and palate; computer based Semantic Analysis; craniofacial; craniofacial development; craniofacial microsomia; data integration; data visualization; design; differential expression; graphical user interface; image visualization; information framework; interest; malformation; nerve supply; optical imaging; soft tissue; tool; treatment planning; web page; web-accessible

The purpose of the national FaceBase consortium is to systemically acquire and integrate multiple forms of data in order to facilitate a systems level understanding of the causes and possible treatments for craniofacial abnormalities. A basic component of any such data integration effort is a controlled set of terms or keywords that can be associated with the data through data annotation, so that diverse data can be related via common terms. If in addition, the terms are related to each other in an ontology, then integration can occur at the level of meaning rather than simply via keywords. As part of FaceBase1 we designed and partially implemented the Ontology of Craniofacial Development and Malformation (OCDM), based on our Foundational Model of Anatomy ontology (FMA). The OCDM currently consists of components for representing human and mouse adult and developmental anatomy and malformations, as well as mappings between homologous structures in the two organisms. Since the focus of FaceBase1 was cleft lip and palate the initial focus of the ontology was representation of structures and developmental relations relevant to these conditions in mouse and human. In our proposed work we will greatly extend the OCDM to accommodate conditions of interest to FaceBase2 researchers, such as human and mouse facial, palatal, and cranial vault development, and dysmorphology such as craniosynostosis, midface hypoplasia, frontonasal dysplasia, craniofacial microsomia and microtia. These malformations will require extensive structural and developmental representation of the entire musculoskeletal system of the head, as well as associated soft tissue anatomy that includes the integumentary system, deep fascial system, viscerocranial mucosa, adipose tissue, eyes, ears, tongue, vasculature and neural network. In addition we will incorporate and add relations to the Zfin ontology to reflect the inclusion of zebrafish in FaceBase2. Versions of the OCDM will be released to the FaceBase Hub in OWL 2. By conforming to ontology best practices such as OWL 2 the OCDM will be interoperable with other efforts that are contributing to the overall world wide semantic web of linked data and knowledge.

全国FaceBase联盟的目的是系统地收购和